Excerpt from GenomeWeb:
When patients seeking BRCA testing are counseled by certified genetic healthcare providers (GHP) they may be more likely to receive cheaper testing procedures, thereby avoiding expensive comprehensive sequencing tests, according to a new study.
The research, conducted by investigators at the Moffitt Cancer Center and published yesterday in Genetics in Medicine, found that patients seeking to find out their BRCA1 and BRCA2 status who met with GHPs, or genetic counselors and geneticists, also were more likely to recall having pre-test counseling that fit into nationally recommended guidelines.
"Our results suggest that genetic healthcare providers are less likely to order more expensive comprehensive genetic testing, when less expensive testing may be appropriate," lead study author Deborah Cragun, a post-doctoral fellow at Moffitt, said in a statement.
To read the full article please visit: http://www.genomeweb.com//clinical-genomics/survey-genetic-counseling-leads-some-patients-cheaper-brca-tests
Read more!
Monday, June 16, 2014
The Truth about Public Genetic Databases
The vast majority (95%) of individuals pursuing BRCA testing receive one of two types of results: 1) negative results with no mutation or variant found or 2) a BRCA mutation detected. Both should be interpreted carefully by a certified genetic counselor in the context of that patient’s personal/family history.
However ~3-5% of individuals pursuing BRCA testing will learn that they carry a BRCA “variant of uncertain significance” or VUS, whose significance is not yet known. One commercial testing laboratory, that recently lost its patents on the BRCA1 and BRCA2 genes, has found new ways to leverage its product, including describing its variant classification and private database as “vastly superior” and a major differentiator among its competitors (1). Their newest claims call public databases into question (2). Upon recent return to their website, they have taken this page and video down. However, we aim to clarify this discussion.
This commercial laboratory has raised concerns about the “quality control” and “oversight” of public databases and the “safety and well-being of patients.”
This laboratory claims that its contributions to public databases stopped due to concerns over database curation, matching data formats and patient safety. However, several reports have emerged that this change in philosophy had more to do with hoarding trade secrets than patient care (3,4). Recently, executives at this laboratory acknowledged that their “competitors reliance on public databases with high VUS and error rates will further restrict patient access to life-saving medicine (5).” This statement was made in the context of PARP inhibitor eligibility.
Other laboratories, clinicians, scientist and patients have recognized that patients, clinicians and researchers will benefit from pooling of such mutation and variant data and have created or contributed to the Free the Data movement (http://www.free-the-data.org). With recognition of the greater good created from shared information, some patients have begun to request that their testing be performed only at a laboratory that shares their data. Data-sharing has become a selling point for laboratories competing for BRCA testing. As this movement gains greater attention and traction, creating public genetic databases that feature proper curation of data, transparency on how variant classification decisions are made, and open forums for discussion will be critical. Read more on this topic here: Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payer.
This lab also reports that they plan to publish a comparison showing wide disparities of over 2,000 variants in BRCA1 and BRCA2 among 5 public databases with their proprietary database. We look forward to an open discussion of their data but realize that this will likely be a one-sided conversation as it has been for many years. The few recent publications from this laboratory lack analytic algorithms and underlying sequence details that are necessary to validate and interpret their data independently (6–10). This is in contrast with national recommendations to include such data for validation (11, 12). For many years, this laboratory has had access to public databases and researchers work while not contributing anything themselves nor allowing access to their internal data. This relationship has created an inequity that relates to basic scientific and medical information. Cook-Deegan and colleagues concluded that this dynamic “changes the policy context, prompting a debate about keeping clinically relevant data proprietary when that secrecy makes independent verification of its medical significance impossible (3).”
In addition, ethical questions have been raised regarding this labs refusal to disclose mutation/variant classification information on genes that were initially discovered as a result of a large, international research collaboration, funded by government grants and then kept under lock-and-key by patents that have now been invalidated (1, 13-16).
It appears that the ultimate goal of retaining such data as a trade secret is to extend the life of their patents and continue to reap the financial windfall from their long held monopoly.
For more on this topic visit: http://www.ajmc.com/publications/evidence-based-oncology/2014/May-2014/Choosing-a-BRCA-Genetic-Testing-Laboratory-A-Patient-Centric-and-Ethical-Call-to-Action-for-Clinicians-and-Payers
References:
1. Pollack A. Despite gene patent victory, Myriad Genetics faces challenges. The New York Times. http://www.nytimes.com/2011/08/25/business/despite-gene-patent-victory-myriad-genetics-faces-challenges.html?pagewanted=all&module=Search&mabReward=relbias%3Ar Published August 24, 2011.
2. Myriad Pro “Public Variant Database Considerations” https://myriadpro.com/public-variant-database-considerations/?utm_source=hs_email&utm_medium=email&utm_content=13160318&_hsenc=p2ANqtz-9Hy2EyKDKSdFjrPHm_KZ_dJNRO5NUp-qg34AZtg2pobHjD5YCI0hHXqRurLUdsv0yUXd_UmiBS2e6V0NMzflCT8ptK3ds1rKIZcCTTQmTGYQpyWPI&_hsmi=13160318 Accessed June 13, 2014
3. Cook-Deegan R, Conley JM, Evans JP, Vorhaus D. The next controversy in genetic testing: clinical data as trade secrets. Eur J Hum Genet. 2013;21:585-588.
4. Ray T. In tackling the VUS challenge, are public databases the solution or a liability for labs? Pharmacogenomics Reporter. http://www.genomeweb.com/clinical-genomics/tackling-vuschallenge-are-public-databases-solution-or-liabilitylabs. Published February 12, 2014. Accessed February 27, 2014.
5. Seeking Alpha. Myriad Genetics’ (MYGN) CEO Peter Meldrum on Q3 2014 Results - Earnings Call Transcript. http://seekingalpha.com/article/2196503-myriad-genetics-mygn-ceopeter-meldrum-on-q3-2014-results-earningscall-transcript?page=3. Published May 6, 2014. Accessed May 7, 2014.
6. Easton DF, Deffenbaugh AM, Pruss D et al: A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet 2007; 81: 873–883.
7. Eisenbraun A, Wenstrup R, Hellerstedt B et al: Hereditary breast and ovarian cancer testing: integration and outcomes within community oncology practices. Commun Oncol 2010; 7: 75–81.
8. Hall MJ, Reid JE, Burbidge LA et al: BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. Cancer 2009; 115: 2222–2233.
9. Saam JBL, Bowles K, Roa B et al: Decline in rate of BRCA1/2 variants of uncertain significance: 2002-2008. 27th Annual Education Conference of the National Society of Genetic Counselors. Los Angeles, CA 2008.
10. Wu K, Hinson SR, Ohashi A et al: Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res 2005; 65: 417–426.
11. Micheel CM, Nass SJ, Omenn GS (eds Evolution of Translational Omics: Lessons Learned and the Path Forward. National Academies Press, 2012.
12. National Research Council: Sharing Publication-Related Data and Materials: Responsibilities of Authorship in the Life Sciences. Washington, DC: National Academies Press, 2003.
13. Matloff E1, Caplan A. Direct to confusion: lessons learned from marketing BRCA testing. Am J Bioeth. 2008;8(6):5-8.
14. Williams-Jones, B. 2006. Be ready against cancer, now: direct-to-consumer advertising for genetic testing. New Genetics and Society, 25(1): 89–107.
15. Hall, J., Lee, M., Newman, B., Morrow, J. E., Anderson, L. A. and Huey, B. 1990. Linkage of early-onset familial breast cancer to chromosome 17q21. Science, 250(4988): 1684–1689.
16. Wooster, R., Neuhausen, S., Mangion, J., Quirk, Y., Ford, D. and Collins, N. 1994. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science, 265(5181): 2088–2090.
Read more!
Friday, June 6, 2014
Don’t Deny our Active Military Life-Saving Genetic Services
TRICARE, the insurance carrier of our active military and their families, ceased to cover more than 100 laboratory-based tests last year, including genetic tests for most hereditary cancer syndromes (excluding BRCA). This decision places TRICARE out-of-step with other government programs and commercial health insurance. Genetic Alliance is asking organizations to join in support to petition members of the House and Senate Armed Services Committees to restore coverage for these important, life-saving tests.
To show your support, go to http://www.geneticalliance.org/tricare-sign to sign their letter by Sunday, June 15.
Read more!
To show your support, go to http://www.geneticalliance.org/tricare-sign to sign their letter by Sunday, June 15.
Read more!
Thursday, May 29, 2014
Don’t Do It, AMA
The American Medical Association (AMA) will soon be voting on a statement opposing the utilization of genetic testing services solely by providers who specialize in genetics (e.g. geneticists, genetic counselors) and in support of genetic testing by any provider regardless of specialty, education, or certification. The serious negative ethical, legal, financial and medical implications of this approach have been well documented (1-7). In addition, several of the statements in the proposal are inaccurate:
Proposed Statement: “Certified clinical genetic counselors and medical geneticists are in severe shortage in many areas of the country.”
Response: This is not accurate. There are many board certified geneticists practicing in the United States – many of whom have outreach clinics covering large geographic areas. For patients without a local genetic counselor, access is no longer an issue because there are now internet, phone and satellite based telemedicine services available for genetic counseling (8,9).
Proposed Statement: “Physicians treating patients who may be suspected of genetic susceptibility to cancer are well educated as to the indications for and implications of such genetic testing.”
Response: Multiple studies spanning more than a decade have shown that the majority of physicians do not have the education, training or certification to take on this detailed and ever-evolving subspecialty (6,7,10-27). Evidence continues to mount that the majority of physicians order either too much, or incorrect, testing in even straightforward cases (5-7). Serious, life-threatening errors have resulted from clinicians without proper training and credentials practicing generic counseling and testing (1-3). Medical malpractice claims have been filed against such clinicians, and the number of lawsuits these clinicians will face is likely to inflate as genetic technology becomes increasingly complex (28).
Proposed Statement: “The requirement for an independent specialist may interfere with the timing and coordination of care.”
Response: Genetic counseling centers routinely reserve appointments for urgent patients for surgical or radiation decision-making immediately, without delaying such treatment. High standards for thorough genetic counseling, informed consent, proper ordering and accurate result interpretation will be paramount in harnessing the benefits of genetic testing and correctly incorporating this information into a patient’s medical management.
Proposed Statement: “The ultimate decision on the medical necessity for genetic testing should be within the realm of the treating physician and his or her patient.”
Response: With an average of 20-22 minutes scheduled per patient (29), it is both unrealistic and unfair to expect the already overburdened clinician to take on the complex role of cancer genetic counseling and testing. A more efficient approach is for the clinician to choose which patients need genetic counseling and to refer them to a certified genetic counselor. In addition, patients do not expect their clinicians to be experts in genetics, but to play a key role in referring them for these genetic services (30).
We ask the AMA to consider these facts when voting on this upcoming proposal,that places both physicians and patients at risk.
References:
1. Brierley, KL, et al (2012). Cancer Journal, 18:303-309.
2. Brierley, KL, et al. (2010). Connecticut Medicine, 74(7):413-423.
3. Bensend TA, et al (2014) Journal of Genetic Counseling. 23(1):48-63.
4. UnitedHealth (2012) working paper 7. UnitedHealth Center for Health Reform and Modernization.
5. Value of Genetic Counselors in the Laboratory (2011). Lab Document. ARUP
6. Plon SE, et al. (2011) Genet Med. 13(2):148-154.
7. Bellcross C, et al. (2011) American Journal of Preventive Medicine, 40(1):61-66.
8. Hilgart, J et al. (2012) Gen in Med:14(9):765–776.
9. Taylor A. (2012) The Advisory Board Company: Oncology Roundtable. Accessed at: http://www.advisory.com/research/oncology-roundtable/oncology-rounds/2012/05/outsourcing-genetic-counseling-to-meet-2012-coc-standards
10. Emery J, et al. (1999). Fam Pract, 16:426-445.
11. Wilkins-Haug L, et al. (2000). Obstet Gynecol, 95:421-424.
12. Wilkins-Haug L, et al(1999). J Genet Couns, 8:301-311.
13. Suchard MA, et.al (1999). J Genet Couns, 8:301-311.
14. Watson EK et al. (1999). Fam Pract, 16:420-425.
15. Fry A, et al. (1999). Fam Pract, 16:486-474.
16. Suther S and Goodson P. (2003). Genetics in Medicine, 5(2):70-76.
17. Wideroff L et al. (2003) Cancer Epidemiology, Biomarkers, and Prevention, 12:295-303.
18. Burke W et al. (2009). American Journal of Medical Genetics, 149A: 349-356.
19. Brandt R et al. (2008). Genetic Testing, 12(1): 9-12.
20. Wood ME, et al. (2008). Family Practice, 25:334-340.
21. Chorley W and MacDermot K. (1997). BMJ, 314(7078):441.
22. Demmer LA et al (2000). JAMA, 284:2595-2596.
23. Giardiello FM et al. (1997). The New England Journal of Medicine, 336(12):823-827.
24. Wilkins-Haug L, et al. (2000). Obstet Gynecol, 95:421-424.
25. Greendale K and Pyeritz RE. (2001). Am J Med Genet, 106:223-232.
26. Baars MJ, et al. (2005) Genetics in Medicine, 7(9):605-610.
27. Wideroff, L., et al. (2005). Journal of Medical Genetics, 42(10):749-755.
28. Lindor RA and Marchant GE. (2011) ASCO Annual Meeting; Chicago, Illinois. Abstract #6073.
29. Weeks WB, Wallace AE. (2003) Arch Intern Med. 163(8):944-8.
30. Miller FA, et al. (2010) Family Practice, 27:563–569
Saturday, May 24, 2014
Article Concluding the Majority of Breast Surgeons Provide Adequate Genetic Counseling Demonstrates the Opposite
An original article published online in the Annals of Surgical Oncology (Ann Surg Oncol DOI 10.1245/s10434-014-3711-9) is noteworthy for many reasons.
• This article is entitled, ‘Can Breast Surgeons Provide Breast Cancer Genetic Testing?’, and yet the methods used cannot adequately answer this question. The authors surveyed breast surgeons requesting a ‘self-assessment of skills and experience’. This methodology is flawed, to say the least, and it is difficult to believe that such an article would be published in a peer-reviewed journal in 2014.
• Fewer than 35% of those surveyed responded, with a possible selection bias toward those surgeons most interested and educated in genetic testing. And yet only half (51.6%) report that they both feel confident in their ability to provide appropriate pre- and post-BRCA test counseling and do so as a standard practice.
• Only 63% of respondents standardly obtain a 3-generation pedigree for their patient’s family history of cancer, a requirement by NCCN Guidelines as part of the breast and/or ovarian cancer risk assessment.1 This omission of a critical element of genetic counseling makes it impossible for the clinician to perform a risk assessment, order the correct genetic test, and could result in patients being denied coverage for testing.1 Such errors have been shown to result in patients having inappropriate prophylactic surgeries, inappropriate surveillance and even increased mortality, nationally.2,3,4
• This study includes no measures of knowledge, training, or education of the respondents. There is a vast body of literature showing that physicians do not have the time, education or knowledge to provide these services.5-22
• The authors conclude from their findings that “the majority of breast surgeons report appropriate practices related to assessing genetic risk, obtaining testing, interpreting the results, and providing counseling and related clinical services.” However, this study actually does not provide any data regarding how often breast surgeons interpret test results accurately, make appropriate screening and risk reduction recommendations based on test results, or provide “related clinical services”.
• Disturbingly, the authors declare no conflict of interest. Yet, at least one of the authors has worked as a speaker for Myriad Genetics Laboratory in 2014. Such conflicts of interest in choosing laboratories and influencing policy has been a subject of recent debate.23
1. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2014. www.nccn.org. Accessed May 23, 2014.
2. Brierley KL, Campfield D, Ducaine W, et al. Errors in delivery of cancer genetics services: implications for practice. Connecticut Medicine. 2010;74:413-423.
3. Brierley KL,Blouch E, Cogswell W, et al. Adverse events in cancer genetic testing: medical, ethical, legal, and financial implications. The Cancer Journal. 2012;18(4):303-309.
4. Bensend TA, Veach PM, Niendorf KB. What's the Harm? Genetic Counselor Perceptions of Adverse Effects of Genetics Service Provision by Non-Genetics Professionals. Journal of Genetic Counseling. Feb 2014;23(1):48-63.
5. Emery J, Watson E, Rose P, Andermann A. A systematic review of the literature exploring the role of primary care in genetic services. Fam Pract 1999; 16:426-445.
6. Greendale K and Pyeritz RE. Empowering primary care health professionals in medical genetics: How soon? How fast? How far? Am J Med Genet 2001;106:223-232.
7. Wilkins-Haug L, Hill L, et al. Gynecologists’ training, knowledge, and experiences in genetics: A survey. Obstet Gynecol 2000;95:421-424.
8. Wilkins-Haug L, Erickson K, et al. Obstetrician-Gynecologists’ opinions and attitudes on the role of Suchard MA, Yudkin P, Sinsheimer JS. Are general practitioners willing and able to provide genetic services for common diseases? J Genet Couns 1999;8:301-311.
9. Suchard MA, Yudkin P, Sinsheimer JS. Are general practitioners willing and able to provide genetic services for common diseases? J Genet Couns 1999;8:301-311.
10. Watson EK et al. The ‘new genetics’ and primary care: GP’s views on their role and their educational needs. Fam Pract 1999;16:420-425.
11. Fry A, Campbell H, Gudmundsdottir H, Rush R, Porteous M, Gorman D, Cull A. GP’s views on their role in cancer genetic counseling services and current practice. Fam Pract 1999; 16:486-474.
12. Suther S and Goodson P. Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature. Genetics in Medicine 2003; 5(2):70-76.
13. Wilkins-Haug L, Erickson K, et al. Obstetrician-Gynecologists’ opinions and attitudes on the role of genetics in women’s health. J Womens Health Gend Based Med 2000;9:873-979.
14. Wideroff L et al. Physician use of genetic testing for cancer susceptibility: Results of a national survey. Cancer Epidemiology, Biomarkers, and Prevention 2003; 12:295-303.
15. Burke W et al. Genetic assessment of breast cancer risk in primary care practice. American Journal of Medical Genetics Part A 2009; 149A: 349-356.
16. Brandt R et al. Cancer genetics evaluation: Barriers to and improvements for referral. Genetic Testing 2008; 12(1): 9-12.
17. Wood ME, Stockdale A, and Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Family Practice 2008; 25:334-340.
18. Chorley W and MacDermot K. Who should talk to patients with cancer about genetics? BMJ 1997; 314(7078):441.
19. Demmer LA et al. Knowledge of ethical standards in genetic testing amoung medical students, residents, and practicing physicians. JAMA 2000; 284:2595-2596.
20. Giardiello FM et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. The New England Journal of Medicine 1997; 336(12):823-827.
21. Plon SE, Cooper HP, Parks B, et al. Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med. Feb 2011;13(2):148-154.
22. Bellcross C, Kolor K, Goddard K, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. American Journal of Preventive Medicine. Jan 2011;40(1):61-66.
23. Matloff ET, Barnett RE, Nussbaum R. Choosing a BRCA genetic testing laboratory: a patient-centric and ethical call to action for clinicians and payers. American Journal of Managed Care. 2014;20 (Special Issue 7): SP229. Read more!
Tuesday, May 20, 2014
Geneticists on Both Coasts Issue “Call to Action” On Need to Share DNA Data
In the new issue of Evidence-Based Oncology, Ellen T. Matloff, MS, CGC, and Rachel E. Barnett, MS, CGC, of the Yale Cancer Center and Robert Nussbaum, MD, of UC San Francisco write that efforts by some genetic testing laboratories to grab market share in the lucrative BRCA testing market may put patients at risk, while violating ethical standards issued by the American Medical Association.
Geneticists from both coasts have issued a “call to action” over what they say are unethical actions by some genetic testing laboratories, which seek to gain or retain market share among patients trying to understand their cancer risk.
Ellen T. Matloff, MS, CGC, and Rachel E. Barnett, MS, CGC, of Yale Cancer Genetic Counseling at the Yale Cancer Center, and Robert Nussbaum, MD, of the University of California at San Francisco, are authors of a commentary appearing in the May-June 2014 issue of Evidence-Based Oncology, a news publication of The American Journal of Managed Care.
Their commentary, “Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payers,” decries what they say are efforts by some doctors to steer patients to laboratories, or even “demand” that tests by done by a certain lab. “In several instances it was discovered that these clinicians were either paid consultants for such laboratories, or received speaking fees or research funding from those entities,” the authors write.
This comes nearly a year after the U.S. Supreme Court, in a June 13, 2013, ruling, stripped away Myriad Genetics Inc.’s long-held patent protection for BRCA1 and BRCA2 testing. For years, Myriad held a monopoly on testing for patients’ risk of having breast or ovarian cancer, or, for men, of passing along those risks to daughters.
Matloff has said previously that the ruling, coupled with Angelina Jolie’s announcement that she had both breasts removed due to BRCA risk, caused interest in genetic testing to soar. The ruling set off competition in the genetic testing market, with a resulting drop in prices.
Since that time, however, the authors say that Myriad has moved to retain market share in two ways: first, the company continues its decade-long practice of not sharing patients’ DNA sequences with public research databases; and, second, company officials have made statements questioning the integrity of public databases, while telling investors that the quality of its privately held DNA data represents an edge over competitors.
The authors quote Myriad’s recent third-quarter investment call, which included the statement, regarding the cancer therapy PARP inhibitors, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.”
VUS, or variant of unknown significance, is a mutation in the BRCA1 or BRCA2 gene that may or may not result in cancer, and for which further study is needed. Mature data sets with more patients’ DNA sequences are less likely to report a VUS for which cancer risk has later been determined. However, the authors assert that Myriad is overstating its superiority. In reality, they write, Myriad’s reported 3% variant rate is only slightly lower than other labs – Ambry Genetics’ rate of 4.4% is cited – so the vast majority of patients would be unaffected.
Matloff told Evidence-Based Oncology that Myriad’s decision to withhold 11 years’ worth of BRCA testing data, a period in which it had market monopoly, means that patients who are tested elsewhere may not learn their true risk level, and could be denied life-saving cancer treatment as a result.
Matloff and her co-authors write that this decision runs afoul of an AMA resolution that considers unethical any decision to use “patents, trade secrets … or other means to limit the availability of medical procedures.”
The authors and others in the field have argued that withholding DNA data from public use is wrong for the following reasons:
-It puts patients at risk.
-It denies use of the data for public benefit, even though many tests that allowed the gathering of DNA were paid for by Medicare or Medicaid.
-It risks ongoing market concentration of certain genetic tests, which will keep prices high for patients, insurers, employers, and taxpayers. Conversely, the authors write, “sharing of genetic data will benefit patient care and clinical research, which may lead to lower healthcare costs for all.”
The authors write that broadening access to DNA data “is particularly relevant for publicly funded insurers that could create incentives or make data sharing a stipulation of coverage.”
The commentary appears in Evidence-Based Oncology with two related stories: a look at efforts to reform the reimbursement system for molecular diagnostic testing, which includes Myriad’s assertion of “rights” to intellectual property; and a portrait of GenBank, the public data-sharing initiative of the National Institutes of Health (NIH).
Click here to see the original press release on PRWeb
Read more!
Geneticists from both coasts have issued a “call to action” over what they say are unethical actions by some genetic testing laboratories, which seek to gain or retain market share among patients trying to understand their cancer risk.
Ellen T. Matloff, MS, CGC, and Rachel E. Barnett, MS, CGC, of Yale Cancer Genetic Counseling at the Yale Cancer Center, and Robert Nussbaum, MD, of the University of California at San Francisco, are authors of a commentary appearing in the May-June 2014 issue of Evidence-Based Oncology, a news publication of The American Journal of Managed Care.
Their commentary, “Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payers,” decries what they say are efforts by some doctors to steer patients to laboratories, or even “demand” that tests by done by a certain lab. “In several instances it was discovered that these clinicians were either paid consultants for such laboratories, or received speaking fees or research funding from those entities,” the authors write.
This comes nearly a year after the U.S. Supreme Court, in a June 13, 2013, ruling, stripped away Myriad Genetics Inc.’s long-held patent protection for BRCA1 and BRCA2 testing. For years, Myriad held a monopoly on testing for patients’ risk of having breast or ovarian cancer, or, for men, of passing along those risks to daughters.
Matloff has said previously that the ruling, coupled with Angelina Jolie’s announcement that she had both breasts removed due to BRCA risk, caused interest in genetic testing to soar. The ruling set off competition in the genetic testing market, with a resulting drop in prices.
Since that time, however, the authors say that Myriad has moved to retain market share in two ways: first, the company continues its decade-long practice of not sharing patients’ DNA sequences with public research databases; and, second, company officials have made statements questioning the integrity of public databases, while telling investors that the quality of its privately held DNA data represents an edge over competitors.
The authors quote Myriad’s recent third-quarter investment call, which included the statement, regarding the cancer therapy PARP inhibitors, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.”
VUS, or variant of unknown significance, is a mutation in the BRCA1 or BRCA2 gene that may or may not result in cancer, and for which further study is needed. Mature data sets with more patients’ DNA sequences are less likely to report a VUS for which cancer risk has later been determined. However, the authors assert that Myriad is overstating its superiority. In reality, they write, Myriad’s reported 3% variant rate is only slightly lower than other labs – Ambry Genetics’ rate of 4.4% is cited – so the vast majority of patients would be unaffected.
Matloff told Evidence-Based Oncology that Myriad’s decision to withhold 11 years’ worth of BRCA testing data, a period in which it had market monopoly, means that patients who are tested elsewhere may not learn their true risk level, and could be denied life-saving cancer treatment as a result.
Matloff and her co-authors write that this decision runs afoul of an AMA resolution that considers unethical any decision to use “patents, trade secrets … or other means to limit the availability of medical procedures.”
The authors and others in the field have argued that withholding DNA data from public use is wrong for the following reasons:
-It puts patients at risk.
-It denies use of the data for public benefit, even though many tests that allowed the gathering of DNA were paid for by Medicare or Medicaid.
-It risks ongoing market concentration of certain genetic tests, which will keep prices high for patients, insurers, employers, and taxpayers. Conversely, the authors write, “sharing of genetic data will benefit patient care and clinical research, which may lead to lower healthcare costs for all.”
The authors write that broadening access to DNA data “is particularly relevant for publicly funded insurers that could create incentives or make data sharing a stipulation of coverage.”
The commentary appears in Evidence-Based Oncology with two related stories: a look at efforts to reform the reimbursement system for molecular diagnostic testing, which includes Myriad’s assertion of “rights” to intellectual property; and a portrait of GenBank, the public data-sharing initiative of the National Institutes of Health (NIH).
Click here to see the original press release on PRWeb
Read more!
Friday, May 16, 2014
Choosing a BRCA Genetic Testing Laboratory: A Patient-Centric and Ethical Call to Action for Clinicians and Payers
Genetic testing laboratories are using aggressive and manipulative tactics to capture market share in the BRCA testing market. Clinicians and payers are encouraged to utilize patient-centric criteria, including open access to data, to make decisions about genetic testing laboratories.
The past 12 months in the world of cancer genetic counseling have been more notable, perhaps, than the past 12 years combined. In May 2013, Hollywood icon Angelina Jolie went public with her BRCA1+ status, thrusting the field of cancer genetic testing and counseling into the spotlight and increasing referral rates to clinics by as much as 40% (E. T. Matloff, MS, oral communication, July 2013).1 One month later, the US Supreme Court unanimously ruled against the validity of patents that lay claim to genomic DNA in Association for Molecular Pathology v Myriad Genetics, Inc.2 Within hours, multiple laboratories began offering more comprehensive genetic testing for the hereditary breast and ovarian cancer genes BRCA1 and BRCA2, and at half the cost. The battle for the multi-million-dollar BRCA testing market had begun.
This battle has resulted in some genetic counseling centers reporting that referring clinicians have begun to request, or demand, that their patients’ BRCA testing be sent to a particular laboratory. In several instances it was discovered that these clinicians were either paid consultants for such laboratories, or received speaking fees or research funding from those entities.
This is clearly a conflict of interest in violation of a physician’s ethical obligations “to regard responsibility to the patient as paramount” and to discharge their “responsibility to participate in activities contributing to the improvement of the community and the betterment of public health.”3 Concerns about such manipulative tactics led us to develop a position statement stipulating that decisions about which genetic testing laboratories to use should focus on test quality, turnaround time, cost, and whether or not the laboratory shares its data in public databases (Table 1).
Without its patent-protected monopoly, Myriad now appears to be relying on trade secrets to maintain its share of the BRCA market.4,5 The “trade secrets” are actually a database of BRCA variants of uncertain significance (VUS) derived from the thousands of patient tests they have performed over the past decade.5 The company once contributed its data to a public database maintained by the National Institutes of Health, but ceased doing so in 2004.4 Several Myriad scientists and executives have stated that the public variant databases are not properly curated and that contributing to such resources would cause more harm than good; however, by at least 1 account, Myriad disclosed that it made its decision to stop sharing data for the purpose of retaining data as a trade secret.4,6
In Myriad’s Q3 Earnings Call Transcript of May 6, 2014, the company publicly acknowledged that in the context of PARP inhibitors, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.”7 The decision to hoard patient VUS data, even while recognizing that this decision will restrict patient access to lifesaving treatment, is incongruent with the American Medical Association’s (AMA’s) policy on Genome Analysis and Variant Identification (Table 2) and is considered unethical behavior according to the AMA’s Resolution E-9.095 on “the use of patents, trade secrets…or other means to limit the availability of medical procedures.”8,9
Although variant classification is important, few BRCA tests result in a variant of uncertain significance (ie, 4.4% at Ambry Genetics10). Myriad itself reports a 3% overall variant rate, slightly lower than other labs’ and presumably attributable to the superior testing experience enabled by its patents.11 Therefore, the vast majority of patients (~95%) are not impacted by a variant of uncertain significance, although the company describes its information as “vastly superior” and leverages variant classification ability as a major differentiator.5
Other laboratories offering BRCA testing have teamed with clinicians, scientists, and patients to expand the pool of publicly available genetic information for the betterment of clinical care and research as part of the Free the Data movement (http://www.free-the-data.org). This movement recognizes that patients, clinicians, scientists, and insurers could all benefit from pooling such information.
It has gained traction in patient communities, and some patients now request that their genetic testing be sent to laboratories that share data. Many of these competing laboratories are advertising their data-sharing policies as a way to gain market share. As this movement progresses, creating public genetic databases that feature proper curation of data, transparency on how variant classification decisions are made, and open forums for discussion will be critical.
With the growing number of laboratories offering testing, insurers are beginning to contract with particular laboratories for BRCA testing, designating certain laboratories as their in-network providers.12 Before negotiating such partnerships, payers and regulators have the opportunity to choose to partner only with high-quality laboratories that pledge to share all past, present, and future data in public databases.
As Cook-Deegan et al write, “National health systems and insurers, regulators, researchers, providers, and patients all have a strong interest in ensuring broad access to information about the clinical significance of variants discovered through genetic testing.”3 This is particularly relevant for publicly funded insurers that could create incentives or make data sharing a stipulation for coverage.4,13
Our patients deserve for decisions regarding where their genetic testing is performed to be unbiased, free of conflict, and based upon considerations unrelated to the clinician’s self-interest. Moreover, sharing of genetic data will benefit patient care and clinical research, which may lead to lower healthcare costs for all moving forward. The choice to use only laboratories that are committed to quality, efficiency, and facilitating progress for all through sharing of data represents an important opportunity as our healthcare system evolves.
Ellen T. Matloff and Rachel E. Barnett: Yale Cancer Genetic Counseling, Yale Cancer Center, Yale School of Medicine. Robert Nussbaum, MD: Division of Medical Genetics, University of California, San Francisco School of Medicine.
References
1. Jolie A. My medical choice. The New York Times. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html/?_r=0. Published May 14, 2013.
2. Supreme Court of the United States. Association for Molecular Pathology v Myriad Genetics, 2013 WL 2631062 (June 13, 2013).
3. American Medical Association. Principles of medical ethics. http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/codemedical-ethics/principles-medical-ethics.page. Accessed May 7, 2014.
4. Cook-Deegan R, Conley JM, Evans JP, Vorhaus D. The next controversy in genetic testing:clinical data as trade secrets. Eur J Hum Genet. 2013;21:585-588.
5. Pollack A. Despite gene patent victory, Myriad Genetics faces challenges. The New York Times. http://www.nytimes.com/2011/08/25/business/despite-gene-patent-victory-myriad-geneticsfaces-challenges.html?pagewanted=all&_r=0. Published August 24, 2011.
6. Ray T. In tackling the VUS challenge, are public databases the solution or a liability for labs? Pharmacogenomics Reporter. http://www.genomeweb.com/clinical-genomics/tackling-vuschallenge-are-public-databases-solution-or-liabilitylabs. Published February 12, 2014. Accessed February 27, 2014.
7. Seeking Alpha. Myriad Genetics’ (MYGN) CEO Peter Meldrum on Q3 2014 Results - Earnings Call Transcript. http://seekingalpha.com/article/2196503-myriad-genetics-mygn-ceopeter-meldrum-on-q3-2014-results-earningscall-transcript?page=3. Published May 6, 2014. Accessed May 7, 2014.
8. American Medical Association. D-460.971 Genome analysis and variant identification policy statement. www.ama-assn.org. Published June 2013. Accessed May 2, 2014.
9. American Medical Association. Amendment to Opinion E-9.095 Trademarks, patents, copyrights, and other legal restrictions on medical procedures.www.ama.assn.org. Published November 2007. Accessed May 6, 2014.
10. Ambry Genetics. BRCA 1/2 Test Information Fact Sheet. http://www.ambrygen.com/tests/brca1-and-brca2. Accessed May 6, 2014.
11. Eggington JM, Burbidge L, Copeland K, et al. Current variant of uncertain significance rates in BRCA1, BRCA2, and Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) testing. Poster presented at the European Society of Human Genetics (ESHG) Congress 2012.
12. National Society of Genetic Counselors. Cancer Special Interest Group listserv postings. www.nsgc.org. May 2 and May 5, 2014.
13. News Briefs. Genetics in Medicine. 2014; 16(5):357-358.
Click here to see the original article on AJMC.com
Read more!
The past 12 months in the world of cancer genetic counseling have been more notable, perhaps, than the past 12 years combined. In May 2013, Hollywood icon Angelina Jolie went public with her BRCA1+ status, thrusting the field of cancer genetic testing and counseling into the spotlight and increasing referral rates to clinics by as much as 40% (E. T. Matloff, MS, oral communication, July 2013).1 One month later, the US Supreme Court unanimously ruled against the validity of patents that lay claim to genomic DNA in Association for Molecular Pathology v Myriad Genetics, Inc.2 Within hours, multiple laboratories began offering more comprehensive genetic testing for the hereditary breast and ovarian cancer genes BRCA1 and BRCA2, and at half the cost. The battle for the multi-million-dollar BRCA testing market had begun.
This battle has resulted in some genetic counseling centers reporting that referring clinicians have begun to request, or demand, that their patients’ BRCA testing be sent to a particular laboratory. In several instances it was discovered that these clinicians were either paid consultants for such laboratories, or received speaking fees or research funding from those entities.
This is clearly a conflict of interest in violation of a physician’s ethical obligations “to regard responsibility to the patient as paramount” and to discharge their “responsibility to participate in activities contributing to the improvement of the community and the betterment of public health.”3 Concerns about such manipulative tactics led us to develop a position statement stipulating that decisions about which genetic testing laboratories to use should focus on test quality, turnaround time, cost, and whether or not the laboratory shares its data in public databases (Table 1).
Without its patent-protected monopoly, Myriad now appears to be relying on trade secrets to maintain its share of the BRCA market.4,5 The “trade secrets” are actually a database of BRCA variants of uncertain significance (VUS) derived from the thousands of patient tests they have performed over the past decade.5 The company once contributed its data to a public database maintained by the National Institutes of Health, but ceased doing so in 2004.4 Several Myriad scientists and executives have stated that the public variant databases are not properly curated and that contributing to such resources would cause more harm than good; however, by at least 1 account, Myriad disclosed that it made its decision to stop sharing data for the purpose of retaining data as a trade secret.4,6
In Myriad’s Q3 Earnings Call Transcript of May 6, 2014, the company publicly acknowledged that in the context of PARP inhibitors, “Our competitors’ reliance on public databases with high VUS and error rates will further restrict patient access to this life-saving medicine.”7 The decision to hoard patient VUS data, even while recognizing that this decision will restrict patient access to lifesaving treatment, is incongruent with the American Medical Association’s (AMA’s) policy on Genome Analysis and Variant Identification (Table 2) and is considered unethical behavior according to the AMA’s Resolution E-9.095 on “the use of patents, trade secrets…or other means to limit the availability of medical procedures.”8,9
Although variant classification is important, few BRCA tests result in a variant of uncertain significance (ie, 4.4% at Ambry Genetics10). Myriad itself reports a 3% overall variant rate, slightly lower than other labs’ and presumably attributable to the superior testing experience enabled by its patents.11 Therefore, the vast majority of patients (~95%) are not impacted by a variant of uncertain significance, although the company describes its information as “vastly superior” and leverages variant classification ability as a major differentiator.5
Other laboratories offering BRCA testing have teamed with clinicians, scientists, and patients to expand the pool of publicly available genetic information for the betterment of clinical care and research as part of the Free the Data movement (http://www.free-the-data.org). This movement recognizes that patients, clinicians, scientists, and insurers could all benefit from pooling such information.
It has gained traction in patient communities, and some patients now request that their genetic testing be sent to laboratories that share data. Many of these competing laboratories are advertising their data-sharing policies as a way to gain market share. As this movement progresses, creating public genetic databases that feature proper curation of data, transparency on how variant classification decisions are made, and open forums for discussion will be critical.
With the growing number of laboratories offering testing, insurers are beginning to contract with particular laboratories for BRCA testing, designating certain laboratories as their in-network providers.12 Before negotiating such partnerships, payers and regulators have the opportunity to choose to partner only with high-quality laboratories that pledge to share all past, present, and future data in public databases.
As Cook-Deegan et al write, “National health systems and insurers, regulators, researchers, providers, and patients all have a strong interest in ensuring broad access to information about the clinical significance of variants discovered through genetic testing.”3 This is particularly relevant for publicly funded insurers that could create incentives or make data sharing a stipulation for coverage.4,13
Our patients deserve for decisions regarding where their genetic testing is performed to be unbiased, free of conflict, and based upon considerations unrelated to the clinician’s self-interest. Moreover, sharing of genetic data will benefit patient care and clinical research, which may lead to lower healthcare costs for all moving forward. The choice to use only laboratories that are committed to quality, efficiency, and facilitating progress for all through sharing of data represents an important opportunity as our healthcare system evolves.
Ellen T. Matloff and Rachel E. Barnett: Yale Cancer Genetic Counseling, Yale Cancer Center, Yale School of Medicine. Robert Nussbaum, MD: Division of Medical Genetics, University of California, San Francisco School of Medicine.
References
1. Jolie A. My medical choice. The New York Times. http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html/?_r=0. Published May 14, 2013.
2. Supreme Court of the United States. Association for Molecular Pathology v Myriad Genetics, 2013 WL 2631062 (June 13, 2013).
3. American Medical Association. Principles of medical ethics. http://www.ama-assn.org/ama/pub/physician-resources/medical-ethics/codemedical-ethics/principles-medical-ethics.page. Accessed May 7, 2014.
4. Cook-Deegan R, Conley JM, Evans JP, Vorhaus D. The next controversy in genetic testing:clinical data as trade secrets. Eur J Hum Genet. 2013;21:585-588.
5. Pollack A. Despite gene patent victory, Myriad Genetics faces challenges. The New York Times. http://www.nytimes.com/2011/08/25/business/despite-gene-patent-victory-myriad-geneticsfaces-challenges.html?pagewanted=all&_r=0. Published August 24, 2011.
6. Ray T. In tackling the VUS challenge, are public databases the solution or a liability for labs? Pharmacogenomics Reporter. http://www.genomeweb.com/clinical-genomics/tackling-vuschallenge-are-public-databases-solution-or-liabilitylabs. Published February 12, 2014. Accessed February 27, 2014.
7. Seeking Alpha. Myriad Genetics’ (MYGN) CEO Peter Meldrum on Q3 2014 Results - Earnings Call Transcript. http://seekingalpha.com/article/2196503-myriad-genetics-mygn-ceopeter-meldrum-on-q3-2014-results-earningscall-transcript?page=3. Published May 6, 2014. Accessed May 7, 2014.
8. American Medical Association. D-460.971 Genome analysis and variant identification policy statement. www.ama-assn.org. Published June 2013. Accessed May 2, 2014.
9. American Medical Association. Amendment to Opinion E-9.095 Trademarks, patents, copyrights, and other legal restrictions on medical procedures.www.ama.assn.org. Published November 2007. Accessed May 6, 2014.
10. Ambry Genetics. BRCA 1/2 Test Information Fact Sheet. http://www.ambrygen.com/tests/brca1-and-brca2. Accessed May 6, 2014.
11. Eggington JM, Burbidge L, Copeland K, et al. Current variant of uncertain significance rates in BRCA1, BRCA2, and Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) testing. Poster presented at the European Society of Human Genetics (ESHG) Congress 2012.
12. National Society of Genetic Counselors. Cancer Special Interest Group listserv postings. www.nsgc.org. May 2 and May 5, 2014.
13. News Briefs. Genetics in Medicine. 2014; 16(5):357-358.
Click here to see the original article on AJMC.com
Read more!
Monday, February 24, 2014
Genetic Testing Lab Position Statement
To show your support of this position statement, please send an e-mail with your intent, and affiliation to danielle.bonadies@yale.edu
Since the patents on the BRCA1 and BRCA2 genes (associated with hereditary breast and ovarian cancer) were overturned in mid-2013, the options for BRCA testing have exploded. Many laboratories are offering comprehensive, quality testing at ~50% of the previous cost. This competitive marketplace has many benefits to patients, providers and researchers, but we have also seen some laboratories beginning to use manipulative tactics to secure their profits in this volatile field. Genetic counseling centers have reported receiving pressure from clinicians to use specific laboratories for testing, learning that these clinicians are receiving financial incentives or hefty speaker's fees from these laboratories. The conflict of interest is clear. We have reports of other laboratories threatening to siphon-off referring clinicians if their laboratory isn’t used.
Below please find the full text on a “Genetic Testing Lab Position Statement” that pledges we, the ordering clinicians, will continue to make laboratory and testing choices based on what is in the best interest of our patients and will not be swayed by political, personal or financial gain.
This is also an opportune time for patient organizations, clinical organizations and insurers to show their support of laboratories that will fully share past, current and future data in open databases that serve research and patient care.
Please pass this on to your family, friends, colleagues, patients and contacts within your networks.
Genetic Testing Position Statement
Cancer Genetic Counseling Program Yale School of Medicine/Yale Cancer Center
New Haven, CT February 2014
With the emergence of new testing technologies and the 2013 Supreme Court decision banning gene patenting, the available cancer genetic testing options and the laboratories offering testing have expanded exponentially and are likely to continue to do so. As providers we have a responsibility to our patients to make the best decisions regarding which laboratory to use and which tests are most appropriate based on what is best for the patients. Our decisions will not be swayed by political, personal and/or financial gain.
Whenever possible (1), we will choose a laboratory based on these four criteria:
1. Quality: Is the test being offered accurate and comprehensive compared to what else is on the market?
2. Time: How long will the patient have to wait for his or her test results?
3. Cost: Will our patient’s insurance carrier cover this test at this laboratory?
4. Open Access: Has this facility pledged to Free The Data? Whenever possible we will choose laboratories that have pledged to make all of their past, present, and future gene data publicly available in order to allow this important information to be freely accessible to all clinicians and researchers, to further the advancement of medical knowledge and to best serve patient care. We will not support laboratories that hoard data.
To avoid any real or perceived conflicts of interest, we will not accept gifts (including trips, speaking stipends, stock options), funding, personal or financial support from testing laboratories. We pledge to update our laboratory choices over time as these choices evolve, choosing the best option for our patients and clinical research.
As clinicians, insurance plans, patient groups, and professional organizations nationwide begin to decide which laboratories to use in this quickly evolving marketplace, we ask that they join us in this pledge.
1. Laboratory choices must sometimes be based on insurance plan regulations, test availability, or the lab’s previous experience with a rare familial mutation.
Genetic Testing Lab Position Statement.pdf -
Position Statement Signed By:
Clinicians:
Ellen T. Matloff, MS, CGC, Yale Cancer Genetic Counseling
Danielle C. Bonadies, MS, CGC Yale Cancer Genetic Counseling
Karina L. Brierley, MS, CGC, Yale Cancer Genetic Counseling
Rachel E. Barnett, MS CGC, Yale Cancer Genetic Counseling
Niki Lovick, MS CGC, Yale Cancer Genetic Counseling
Michelle Ernst, MS CGC, Yale Cancer Genetic Counseling
Jennifer Doherty, MS, CGC, Yale Cancer Genetic Counseling
Amanda Lamb, ScM, CGC, Maine Medical Center
Nisha Isaac, MS, CGC, University of Maryland St. Joseph Medical Center
Sayaka Hashimoto, MS, LGC, Nationwide Children's Hospital and Ohio State University
Kristin DePrince Mattie, MS, MD Anderson Cancer Center at Cooper
Cathleen McCann, MS, CGC, Sarasota Memorial Healthcare System
Paul B. Dorsey, MS, Legacy Genetic Services
Catie Beattie, MS, CGC, Casey Eye Institute
Peggy Cottrell, MS, CGC, Regional Cancer Center
Jessica Adsit, MS, CGC, Legacy Center for Maternal Fetal Medicine
Amie M. Blanco, MS, LCGC, UCSF Cancer Risk Program
Carrie Fagerstrom, MS, CGC, Randall Children's Hospital at Legacy Emanuel
Melanie Hardy, MS, CGC, Henrico Doctors’ Hospital
Allen E. Bale, MD, DNA Diagnostic Lab, Yale University
Robert Pilarski, MS, LGC; MSW, LSW, Ohio State University Cancer Genetics Program
Christina Dupre, MS, CGC, New England Ob/Gyn Associates
Lauren Ryan, MS, LCGC, UCSF Cancer Risk Program
Meagan Farmer, MS, CGC, University of Alabama at Birmingham
Robert Cook-Deegan, MD, Institute for Genome Sciences & Policy and Sanford School of Public Policy at Duke University
Carol Guthrie, MD Spokane Breast Center, Columbia Medical Associates
James P. Evans MD, PhD, Bryson Distinguished Professor of Genetics & Medicine, Editor-in-Chief; Genetics in Medicine, University of North Carolina at Chapel Hill
Robert Nussbaum, MD, Division of Medical Genetics, University of California, San Francisco
Erin Ash, MS, CGC, Bennett Cancer Center of Stamford Hospital
Cristina Ruiz, MS, CGC, Advocate Center for Breast Care,Oak Lawn, IL
Kelli Mayfarth, MS, CGC Health-Quest Hospital System, New York
Tricia Z. Page, MS, CGC, JScreen at Emory University
Kory Jasperson, MS CGC, Huntsman Cancer Institute
Cécile Skrzynia, MS, CGC,Cancer and Adult Genetic Counseling, UNC Chapel Hill
Kim Brussow, MS, LCGC,Good Samaritan Hospital
Jessica Chowns, MS, CGC, Parkview Health
Melissa Dempsey, MS,Parkview Health
Kathy Christiansen, RN, BSN, OCN,Cancer Prevention and Hereditary Cancer Risk Program, Methodist Estabrook Cancer Center
Marjan Champine, MS, LCGC, Huntsman Cancer Institute
Shawnia Ryan, MS, CGC, Providence Genetics Clinic
Lindsay Conant, MS, LCGC,Oregon Health Science University
Shelly Levin, MS, LCGC, Kaiser Permanente Medical Group
Amy K Krie,MD, Medical Oncologist, Clinical Director Avera Breast Program
Brittany Burnett, MS, LCGC, Sharp Healthcare, San Diego, CA
Community Members and Advocacy Groups:
Genetic Alliance
Kirsten Dooley, Yale Cancer Genetic Counseling
Lisa M Guzzardi, BRCA Advanced, Facebook Group
Marly Canuck Wietzke, Vancouver, BC, Canada
Nicki Boscia Durlester, Founder, Beyond the Pink Moon, Facebook Group
Pamela Morris Watt, CT
Tracy Dunbrook, CT
Cathy Corman, MA
Katie Behr, CT
Andrea Downing, Activist, Patient Advocate
Amy Byer Shainman, The BRCA Responder, BRCA Health Advocate, Co-Administrator of The BRCA Sisterhood on Facebook
Victoria Costello, Genetic Counseling Graduate Student, Sarah Lawrence
Leslie Kellman, NY
Marlene Kuma Gutierrez, CA
Rochelle Bernold, CT
Emily Kelley, Community Manager, Young Previvors Facebook Page
Teri Smieja, Co-author of Letters to Doctors, The BRCA/HBOC edition, Co-creator BRCA Sisterhood Facebook Group.
RaeAnn Kragenbring, Genetic Counseling Graduate Student, Sarah Lawrence
Mary Carpenter
Katherine Lambertson, Fellow, Genetic Alliance
Robin Baslaw, CT
Kate Berges, CT
Jessica DiGiovanna, Genetic Counselling Graduate Student, Mount Sinai
Peter Grudberg, CT
Terry Stoller, CT
Jill Holdren
Joanna Rudnick, Independent Documentary Filmmaker Read more!
Monday, January 13, 2014
After 23andMe, Another Personal Genetics Firm Is Charged with False Advertising
Original post by Dina Fine Maron on Scientific American, 1/11/14
It sounded like a miracle of science and convenience: swab your cheek and drop the saliva sample in the mailbox and GeneLink Biosciences, a personal genetics company, would analyze your DNA and send back nutritional supplements customized to your personal genome. The regimen, the company promised, was good for diabetes, heart disease, arthritis, insomnia and other ailments. The Federal Trade Commission (FTC), however, thought it sounded like false advertising and brought a lawsuit against the company, charging its claims were misleading and not founded in sound science.
The case is the latest in the continuing controversy over personal DNA testing services. Two months ago the U.S. Food and Drug Administration warned 23andMe to stop selling its personal genetics testing kits because the company failed to prove its tests worked and the agency worried about the public health consequences of inaccurate results. The GeneLink case, the FTC’s first against a personal genomics company, could serve as a shot across the bow to other similar businesses. Under the terms of a proposed settlement announced on January 7, Orlando, Fla.–based GeneLink agreed to stop making unsubstantiated health claims. The settlement, which would only take place after a 30-day public comment period and a final decision from the FTC, would keep GeneLink and its former subsidiary, foru International, from making any future claims that their products can impact the course of disease unless such claims are supported by two double-blind, randomized control trials—the gold standard of medicine. A violation of that agreement could lead to fines.
“What we’re alleging is that [GeneLink’s] claims got ahead of the science,” says Carolyn Hann, a lead attorney on the case for the FTC’s Bureau of Consumer Protection. “By taking action against GeneLink and foru we were trying to indicate to this industry we were aware of the claims being made and we wanted the industry to understand where we stand on these issues,” she says. The FTC could not comment on whether other cases against genetic companies are in the offing. Although the commission opened investigations into two other genetic firms in the past, both cases were closed before action was taken, in part because the outfits were no longer going to market their products in the U.S.
GeneLink and its former subsidiary, now an independent company, had claimed that they were sending cheek swab samples to a third-party laboratory for analysis of genetic variations called single nucleotide polymorphisms (or SNPs). The companies claimed they could examine specific SNPs that affect nutritional health and aging and then offer personalized nutritional supplements and skin health products. “Any claims at all that one can look at those SNPs or other SNPs and make any meaningful recommendations for nutrition, cosmetics or anything along those lines are just entirely unfounded and entirely without any scientific merit,” says geneticist James Evans, editor in chief of the journal of the American College of Medical Genetics and Genomics.
The heart of the controversy was GeneLink’s claims that its custom-blended supplements could help compensate for aging or mitigate health issues such as heart disease and arthritis.
Under this lawsuit the FTC also charged that GeneLink failed to adequately protect consumer’s personal data, including contact information, Social Security and credit card numbers, and genetic data. According to FTC documents, GeneLink and foru had obtained genetic information from nearly 30,000 consumers since 2008. The proposed agreements would force the firms to set up comprehensive information security programs to protect such consumer data in the future and to assign at least one employee at each company to oversee that program. The corporations would also be required to receive initial regular external audits to check that the information is secure. The FTC cannot file criminal charges, only civil suits.
Click here to see the original post from Scientific American
Read more!
It sounded like a miracle of science and convenience: swab your cheek and drop the saliva sample in the mailbox and GeneLink Biosciences, a personal genetics company, would analyze your DNA and send back nutritional supplements customized to your personal genome. The regimen, the company promised, was good for diabetes, heart disease, arthritis, insomnia and other ailments. The Federal Trade Commission (FTC), however, thought it sounded like false advertising and brought a lawsuit against the company, charging its claims were misleading and not founded in sound science.
The case is the latest in the continuing controversy over personal DNA testing services. Two months ago the U.S. Food and Drug Administration warned 23andMe to stop selling its personal genetics testing kits because the company failed to prove its tests worked and the agency worried about the public health consequences of inaccurate results. The GeneLink case, the FTC’s first against a personal genomics company, could serve as a shot across the bow to other similar businesses. Under the terms of a proposed settlement announced on January 7, Orlando, Fla.–based GeneLink agreed to stop making unsubstantiated health claims. The settlement, which would only take place after a 30-day public comment period and a final decision from the FTC, would keep GeneLink and its former subsidiary, foru International, from making any future claims that their products can impact the course of disease unless such claims are supported by two double-blind, randomized control trials—the gold standard of medicine. A violation of that agreement could lead to fines.
“What we’re alleging is that [GeneLink’s] claims got ahead of the science,” says Carolyn Hann, a lead attorney on the case for the FTC’s Bureau of Consumer Protection. “By taking action against GeneLink and foru we were trying to indicate to this industry we were aware of the claims being made and we wanted the industry to understand where we stand on these issues,” she says. The FTC could not comment on whether other cases against genetic companies are in the offing. Although the commission opened investigations into two other genetic firms in the past, both cases were closed before action was taken, in part because the outfits were no longer going to market their products in the U.S.
GeneLink and its former subsidiary, now an independent company, had claimed that they were sending cheek swab samples to a third-party laboratory for analysis of genetic variations called single nucleotide polymorphisms (or SNPs). The companies claimed they could examine specific SNPs that affect nutritional health and aging and then offer personalized nutritional supplements and skin health products. “Any claims at all that one can look at those SNPs or other SNPs and make any meaningful recommendations for nutrition, cosmetics or anything along those lines are just entirely unfounded and entirely without any scientific merit,” says geneticist James Evans, editor in chief of the journal of the American College of Medical Genetics and Genomics.
The heart of the controversy was GeneLink’s claims that its custom-blended supplements could help compensate for aging or mitigate health issues such as heart disease and arthritis.
Under this lawsuit the FTC also charged that GeneLink failed to adequately protect consumer’s personal data, including contact information, Social Security and credit card numbers, and genetic data. According to FTC documents, GeneLink and foru had obtained genetic information from nearly 30,000 consumers since 2008. The proposed agreements would force the firms to set up comprehensive information security programs to protect such consumer data in the future and to assign at least one employee at each company to oversee that program. The corporations would also be required to receive initial regular external audits to check that the information is secure. The FTC cannot file criminal charges, only civil suits.
Click here to see the original post from Scientific American
Read more!
Thursday, January 2, 2014
U.S. Preventive Services Task Force Finds Benefit in Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer for Small Group of High-Risk Women
WASHINGTON, D.C. – December 24, 2013 – The U.S. Preventive Services Task Force (Task Force) today published its final recommendation on risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women. The Task Force recommends that women with family members who have had breast, ovarian, tubal, or peritoneal cancer talk with a health care professional to learn if their history might put them at risk for carrying a BRCA mutation. Women who screen positive should receive genetic counseling and, if indicated after counseling, BRCA testing. Additionally, for the vast majority of American women (90 percent), who do not have a family history associated with an increased risk for the inherited mutations, the Task Force continues to recommend against genetic counseling and testing.
One important step in preventing BRCA-related cancer is helping women understand their risk. Mutations in the BRCA1 and BRCA2 genes, which are present in 0.2 to 0.3 percent of women, are just one of many factors that can increase a woman’s risk for developing breast and ovarian cancer. Women with these potentially harmful mutations can have up to a five times greater chance of developing breast cancer, and BRCA mutations can also increase a woman’s lifetime risk for ovarian cancer to as high as 40 percent.
“Too many American women and families are faced with the challenge of dealing with cancer diagnosis and treatment. We have great hope in the science of genomics to improve screening practices and even prevent some cancers,” says Task Force chair Virginia Moyer, M.D., M.P.H. “At this point, the evidence shows that most American women will not benefit from genetic counseling or the test for gene mutations in BRCA1 and BRCA2. For women who have a family history that might be associated with an increased risk for these mutations, we found that some may benefit from in-depth genetic counseling that thoroughly reviews their family history and, if indicated and after weighing the pros and cons of BRCA testing, receiving the test.”
Current tests work best for women at a high risk for developing cancer, but the test alone does not always provide a definitive answer. There are some harms of testing; results are often inconclusive and many women could be burdened with the uncertainty of whether they are—or are not—at an increased risk for cancer. Inconclusive genetic testing leads many women to choose to take powerful medications or undergo major surgery to reduce their risk for developing cancer. Unfortunately, most will not benefit from these interventions and may needlessly suffer great harm, especially because they were never at increased risk to begin with. Therefore, the Task Force continues to recommend against routine genetic counseling and BRCA testing in women without a strong family history of cancer.
“Evidence still shows that there are serious, negative consequences that could result from testing women who are at low risk for BRCA mutations. The BRCA test works best for women who have reviewed their family history of breast or ovarian cancer and the pros and cons of the screening test with a trained professional,” says Dr. Moyer. “We hope further research will improve the ways genomic science can help women and their doctors understand their risk for cancer.”
The Task Force’s final recommendation statement is published online in Annals of Internal Medicine, as well as on the Task Force Web site at www.uspreventiveservicestaskforce.org. A fact sheet that explains the recommendation statement in plain language is also available. A draft version of this recommendation was available for public comment in April 2013.
The Task Force is an independent, volunteer panel of national experts in prevention and evidence-based medicine that works to improve the health of all Americans by making evidence-based recommendations about clinical preventive services such as screenings, counseling services, and preventive medications.
Contact: Ana Fullmer at Newsroom@USPSTF.net / (202) 350-6668
Click here to read the original bulletin by The U.S. Preventive Services Task Force
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CMS Cuts Reimbursement for BRCA1/2 Testing by 49 Percent; Analyst Downgrades Myriad Shares
Original post on GenomeWeb, 12/30/13
NEW YORK (GenomeWeb News) – The Centers for Medicare and Medicaid Services updated its reimbursement level for BRACA testing at $1,438 for 2014, a slash of nearly 49 percent from a previous level of $2,795.
As a result, investment bank Mizuho Securities today downgraded its rating on Myriad Genetics' shares to Hold from Buy and cut the price target on the company's stock to $24 from $36.
In morning trading on the Nasdaq on Monday, shares of Myriad fell 16 percent to $20.18.
In a document filed with the US Securities and Exchange Commission today, Myriad said CMS posted a National Limit Amount of $1,438.14 for CPT code 81211, which covers a test for the full sequencing of the BRCA1 and 2 genes, and for CPT code 81214, which covers a full sequencing of only the BRCA1 gene. No payment rate was set for CPT code 81216, which covers a test for the full sequencing of the BRCA2 gene.
The payment rates for 81211 and 81214 become effective "on or after" Jan. 1, 2014, CMS said.
CMS has opened a public comment period through Jan. 27, 2014, "[a]s the public has not had the opportunity to provide comment on the new NLA for 81211," Myriad said, adding it plans "to address a number of both substantive and process concerns" during the comment period.
"It is unclear why CMS has not valued the BRCA 2 gene in the 81211 code," the Salt Lake City-based company said. "It is also unclear how CMS arrived at the 81211 payment rate within the requirements of the federal gapfill regulations."
In September CMS posted an NLA for Myriad's BRACAnalysis test of $1,449 for the remainder of 2013, suggesting that that rate would last into 2014. Two Medicare contractors, however, quickly said that they had committed an error in setting the $1,449 figure.
In its new BRCA1/2 NLA document posted on Friday, CMS cited the decision by the US Supreme Court in June that invalidated certain claims on patents covering the BRCA1/2 genes held by Myriad. Before the SCOTUS decision, Myriad was the only laboratory offering BRCA testing, but since the judgment a number of firms, including Quest Diagnostics, Laboratory Corporation of America, and BioReference Laboratories' GeneDx business, have launched their own tests.
Medicare's Administrative Contractors (MAC) have received pricing data from the labs offering BRCA testing, and "[b]ased on the new information, the MACs submitted pricing information for CPT code 81211 that resulted in an NLA of $1,438.14," CMS said.
"At present, it is our understanding laboratories are offering the CPT code 81211 test for prices that range from approximately $900 to $2,900. As CPT code 81214 is similar to CPT code 81211, the additional comment period will apply to both CPT codes 81211 and 81214," CMS added.
Mizuho analyst Peter Lawson today downgraded Myriad's shares following the reimbursement cut, saying that although Medicare accounts for only 10 percent of Myriad's BRCA revenues, "CMS pricing has increased the fear that private payors may also cut pricing."
While the reimbursement rate may increase after the public comment period, "we are cautious on that outcome," Lawson said.
Leerink Swann analyst Dan Leonard added that even if BRCA testing reimbursement is increased, any increase will not take effect until after April 1, 2014. "[T]hus, the lower payment rate for 81211 will occur at least through" March 31, 2014, he said in a research note.
He maintained a Market Perform rating on Myriad's shares with a $25 price target.
Click here to see the original post on GenomeWeb
Read more!
NEW YORK (GenomeWeb News) – The Centers for Medicare and Medicaid Services updated its reimbursement level for BRACA testing at $1,438 for 2014, a slash of nearly 49 percent from a previous level of $2,795.
As a result, investment bank Mizuho Securities today downgraded its rating on Myriad Genetics' shares to Hold from Buy and cut the price target on the company's stock to $24 from $36.
In morning trading on the Nasdaq on Monday, shares of Myriad fell 16 percent to $20.18.
In a document filed with the US Securities and Exchange Commission today, Myriad said CMS posted a National Limit Amount of $1,438.14 for CPT code 81211, which covers a test for the full sequencing of the BRCA1 and 2 genes, and for CPT code 81214, which covers a full sequencing of only the BRCA1 gene. No payment rate was set for CPT code 81216, which covers a test for the full sequencing of the BRCA2 gene.
The payment rates for 81211 and 81214 become effective "on or after" Jan. 1, 2014, CMS said.
CMS has opened a public comment period through Jan. 27, 2014, "[a]s the public has not had the opportunity to provide comment on the new NLA for 81211," Myriad said, adding it plans "to address a number of both substantive and process concerns" during the comment period.
"It is unclear why CMS has not valued the BRCA 2 gene in the 81211 code," the Salt Lake City-based company said. "It is also unclear how CMS arrived at the 81211 payment rate within the requirements of the federal gapfill regulations."
In September CMS posted an NLA for Myriad's BRACAnalysis test of $1,449 for the remainder of 2013, suggesting that that rate would last into 2014. Two Medicare contractors, however, quickly said that they had committed an error in setting the $1,449 figure.
In its new BRCA1/2 NLA document posted on Friday, CMS cited the decision by the US Supreme Court in June that invalidated certain claims on patents covering the BRCA1/2 genes held by Myriad. Before the SCOTUS decision, Myriad was the only laboratory offering BRCA testing, but since the judgment a number of firms, including Quest Diagnostics, Laboratory Corporation of America, and BioReference Laboratories' GeneDx business, have launched their own tests.
Medicare's Administrative Contractors (MAC) have received pricing data from the labs offering BRCA testing, and "[b]ased on the new information, the MACs submitted pricing information for CPT code 81211 that resulted in an NLA of $1,438.14," CMS said.
"At present, it is our understanding laboratories are offering the CPT code 81211 test for prices that range from approximately $900 to $2,900. As CPT code 81214 is similar to CPT code 81211, the additional comment period will apply to both CPT codes 81211 and 81214," CMS added.
Mizuho analyst Peter Lawson today downgraded Myriad's shares following the reimbursement cut, saying that although Medicare accounts for only 10 percent of Myriad's BRCA revenues, "CMS pricing has increased the fear that private payors may also cut pricing."
While the reimbursement rate may increase after the public comment period, "we are cautious on that outcome," Lawson said.
Leerink Swann analyst Dan Leonard added that even if BRCA testing reimbursement is increased, any increase will not take effect until after April 1, 2014. "[T]hus, the lower payment rate for 81211 will occur at least through" March 31, 2014, he said in a research note.
He maintained a Market Perform rating on Myriad's shares with a $25 price target.
Click here to see the original post on GenomeWeb
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